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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;   RDO:0002769
 xref: GARD:1827;   ICD10CM:Q24.0;   NCI:C84669
For additional species annotation, visit the Alliance of Genome Resources.

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 chr18:70,263,290...70,330,420
Ensembl chr18:70,263,359...70,329,907 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:30532227 NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589 		JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 6:42,180,864...42,289,910
Ensembl chr 6:42,180,894...42,289,908 		JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr15:28,574,841...28,611,959
Ensembl chr15:28,575,480...28,611,946 		JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710 		JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795 		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 Zic3 Zic family member 3 ISO ClinVar Annotator: match by OMIM:306955
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, X-linked
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked		 ClinVar
OMIM		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:17295247 PMID:17764085 PMID:18716025 PMID:23427188 PMID:23872418 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795 		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 ISS MouseDO NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803 		JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 PMID:25741868 PMID:26123568 PMID:27637300 PMID:28492532 PMID:28790179 NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823 		JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS MouseDO NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600 		JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:21131974 PMID:28492532 PMID:31443223 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862 		JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia		 ClinVar PMID:24747639 PMID:28492532 NCBI chr 2:44,857,043...44,860,317
Ensembl chr 2:44,857,213...44,860,315 		JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744 PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520 		JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567 		JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929 		JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:10745040 PMID:22387996 PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS		 DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO PMID:12142464 RGD:734893 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS		 DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia		 ClinVar
MouseDO		 PMID:19357118 PMID:19630565 PMID:23477994 PMID:28492532, PMID:11788826 RGD:1601080 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447 		JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682 		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
ClinVar Annotator: match by term: Primary ciliary dyskinesia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:244400		 ClinVar
CTD		 PMID:10577904 PMID:11231901 PMID:16858015 PMID:18434704 PMID:19675306 PMID:21143860 PMID:21270641 PMID:22416021 PMID:23477994 PMID:24033266 PMID:24498942 PMID:24912412 PMID:25741868 PMID:25802884 PMID:26918822 PMID:28492532 PMID:28939216 PMID:29363216, PMID:11231901 RGD:1601083 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992 		JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISO
ISS		 ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome		 ClinVar
MouseDO		 PMID:18950741 NCBI chr10:103,266,343...103,301,521
Ensembl chr10:103,266,296...103,301,544 		JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:12746204 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038 		JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:105,282,090...105,289,396 JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390 PMID:23022101 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588 		JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914 		JBrowse link
G Lrrc6 leucine rich repeat containing 6 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:24307375 PMID:28492532 NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047 		JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962 		JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:1523039 PMID:8813877 PMID:25048963 NCBI chr 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23261302 PMID:23261303 PMID:25741868 PMID:28492532 NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998 		JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS
ISO		 ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar		 PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO
ISS		 ClinVar Annotator: match by term: Kartagener syndrome ClinVar
MouseDO		 PMID:25192045 PMID:25224326 NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr 7:74,939,010...74,992,594
Ensembl chr 7:74,989,223...74,992,582 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:26139845 PMID:28492532 NCBI chr20:9,998,698...10,020,719
Ensembl chr20:9,998,701...10,013,559 		JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779 PMID:28492532 NCBI chr 1:47,412,151...47,478,924
Ensembl chr 1:47,426,258...47,477,524 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23798057 PMID:24824133 PMID:25741868 PMID:28492532 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194 		JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361 		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 NCBI chr 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293 		JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome		 ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:28492532 NCBI chr 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      congenital heart disease 1057
        dextrocardia 42
          Aughton Syndrome 0
          Congenital Heart Defects, Multiple Types, 1, X-Linked 1
          Kartagener syndrome 35
          Kennerknecht Sorgo Oberhoffer Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 0
      Immune & Inflammatory Diseases 3577
        immune system disease 2948
          lymphatic system disease 1098
            splenic disease 130
              visceral heterotaxy 91
                situs inversus 51
                  dextrocardia 42
                    Aughton Syndrome 0
                    Congenital Heart Defects, Multiple Types, 1, X-Linked 1
                    Kartagener syndrome 35
                    Kennerknecht Sorgo Oberhoffer Syndrome 0
paths to the root