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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:Kartagener syndrome
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Accession:DOID:0050144 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. (DO)
Synonyms:exact_synonym: Kartagener triad;   Kartagener's Triad;   Kartagener's syndrome;   Kartageners syndrome;   Kartageners triad;   Siewert syndrome;   dextrocardia, bronchiectasis, and sinusitis;   immotile cilia syndrome, Kartagener type;   primary ciliary dyskinesia, Kartagener type
 primary_id: MESH:D007619
 xref: EFO:1001352;   GARD:6815;   NCI:C84797;   ORDO:98861


show annotations for term's descendants           Sort by:
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 chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778 		JBrowse link
G C5h1orf127 similar to human chromosome 1 open reading frame 127 ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369 		JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581229 NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISS MouseDO NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit 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 chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635 		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 chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313 		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 chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837 		JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199 		JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:22387996 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		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 chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS		 DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO
RGD		 PMID:12142464 RGD:734893 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS		 DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome		 MouseDO
ClinVar
RGD		 PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 susceptibility ISO
ISS		 DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome		 CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 More... RGD:1601083 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISS MouseDO NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378 		JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome		 CTD
ClinVar
MouseDO		 PMID:23354437 PMID:25741868 NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414 		JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237 		JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:228,016,439...228,024,736 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 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925 		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 chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISS
ISO		 ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar		 PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499 		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 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668 		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 chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574 		JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948 		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 chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368 		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 chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      congenital heart disease 1349
        dextrocardia 47
          Kartagener syndrome 29
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Cardiovascular Abnormalities 1548
            congenital heart disease 1349
              visceral heterotaxy 112
                situs inversus 68
                  dextrocardia 47
                    Kartagener syndrome 29
paths to the root