loading...| Preferred Name | Kartagener Syndrome | |
| Synonyms |
Syndrome, Kartagener's Kartagener's Triad Bronchiectasis, Polynesian Kartagener's Syndrome Syndrome, Siewert Siewert Syndrome Kartagener Triad Kartageners Syndrome Polynesian Bronchiectases Dextrocardia, Bronchiectasis, and Sinusitis Kartageners Triad Syndrome, Kartagener Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 1 Polynesian Bronchiectasis |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D007619 |
|
| altLabel |
Syndrome, Kartagener's Kartagener's Triad Bronchiectasis, Polynesian Kartagener's Syndrome Syndrome, Siewert Siewert Syndrome Kartagener Triad Kartageners Syndrome Polynesian Bronchiectases Dextrocardia, Bronchiectasis, and Sinusitis Kartageners Triad Syndrome, Kartagener Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 1 Polynesian Bronchiectasis |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0022521 C4551906 C4317124 |
|
| DC |
1 |
|
| 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. |
|
| DX |
20020101 |
|
| HN |
2002 (1963); for CILIARY DYSKINESIA, PRIMARY use CILIARY MOTILITY DISORDERS 1992-2001 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2002; see KARTAGENER'S SYNDROME 1990-2001; see KARTAGENER TRIAD 1963-1989; for CILIARY DYSKINESIA, PRIMARY see CILIARY MOTILITY DISORDERS 1992-2001 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C567310 http://purl.bioontology.org/ontology/MESH/C535278 http://purl.bioontology.org/ontology/MESH/C535279 http://purl.bioontology.org/ontology/MESH/C535277 |
|
| MDA |
19990101 |
|
| MMR |
20180301 |
|
| MN |
C08.695.501 C14.280.400.280.500 C14.240.400.280.500 C16.320.184.500.531 C16.320.480 C16.131.240.400.280.500 C08.200.531 C16.131.077.245.500.531 C09.150.531 C08.127.384.500 C16.131.810.250.500 C16.131.740.501 |
|
| notation |
D007619 |
|
| prefLabel |
Kartagener Syndrome |
|
| TERMUI |
T022899 T811671 T769764 T443993 T781716 T022900 T443994 T680922 T811670 |
|
| TH |
OMIM (2013) NLM (2002) NL NLM (1966) NLM (2008) NLM (1990) NLM (2012) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D001987 http://purl.bioontology.org/ontology/MESH/D002925 http://purl.bioontology.org/ontology/MESH/D015619 |