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ONTOLOGY REPORT - ANNOTATIONS


Term:Kartagener syndrome
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Accession:DOID:0050144 term browser browse the term
Definition:An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.
Synonyms:exact_synonym: Kartagener Triad;   Kartagener's Syndrome;   Kartagener's Triad;   Kartageners Syndrome;   Kartageners Triad;   PCD;   Siewert syndrome;   dextrocardia, bronchiectasis, and sinusitis;   immotile cilia syndrome, Kartagener type;   primary ciliary dyskinesia, Kartagener type
 primary_id: MESH:D007619
 alt_id: OMIM:244400;   RDO:0000133
 xref: GARD:6815;   ORDO:98861
For additional species annotation, visit the Alliance of Genome Resources.


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Kartagener syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1b1 adaptor related protein complex 1 subunit beta 1 JBrowse link 14 85,230,652 85,281,806 RGD:13592920
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:8554872
RGD:13592920
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc151 coiled-coil domain containing 151 JBrowse link 8 23,000,912 23,014,707 RGD:8554872
RGD:13592920
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:13592920
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
RGD:11554173
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Daw1 dynein assembly factor with WD repeats 1 JBrowse link 9 88,964,530 89,001,568 RGD:13592920
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
RGD:11554173
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:11554173
G Dnah1 dynein, axonemal, heavy chain 1 JBrowse link 16 7,345,131 7,407,009 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:734893
RGD:13592920
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:1601080
RGD:13592920
RGD:8554872
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:1601083
RGD:8554872
RGD:11554173
RGD:7240710
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
RGD:13592920
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
RGD:11554173
G Foxj1 forkhead box J1 JBrowse link 10 105,282,090 105,289,396 RGD:13592920
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:8554872
G LOC691354 hypothetical protein LOC691354 JBrowse link 5 165,464,832 165,491,375 RGD:13592920
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:11250592
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Polr2k RNA polymerase II subunit K JBrowse link 7 74,939,010 74,992,594 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph3 radial spoke head 3 homolog JBrowse link 1 47,412,151 47,478,924 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:13592920
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:8554872
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      respiratory system disease 2370
        Respiratory System Abnormalities 70
          Kartagener syndrome 37
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Immune & Inflammatory Diseases 2999
        immune system disease 2432
          lymphatic system disease 781
            splenic disease 100
              visceral heterotaxy 74
                situs inversus 54
                  dextrocardia 47
                    Kartagener syndrome 37
paths to the root