loading...| Preferred Name |
Primary ciliary dyskinesia |
|
| Synonyms |
PCD |
|
| Definitions |
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_244 |
|
| alternative_term |
PCD |
|
| definition |
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244 |
|
| has_age_of_onset |
Neonatal |
|
| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant |
|
| hasDbXref |
OMIM:614017 OMIM:617577 ICD-11:LA75.Y OMIM:610852 OMIM:615451 OMIM:616037 OMIM:620032 OMIM:612444 OMIM:611884 OMIM:615444 OMIM:618449 OMIM:616726 OMIM:615067 OMIM:612518 UMLS:C4551720 OMIM:215520 OMIM:614679 MedDRA:10069713 OMIM:613808 OMIM:613807 OMIM:620197 OMIM:618695 OMIM:617092 OMIM:617091 OMIM:618063 OMIM:616481 OMIM:612649 OMIM:619436 OMIM:618254 OMIM:614874 OMIM:612274 OMIM:215518 OMIM:615482 OMIM:615481 OMIM:242680 ICD-10:Q34.8 OMIM:614935 OMIM:618781 OMIM:242670 OMIM:608647 OMIM:608644 OMIM:608646 OMIM:613193 OMIM:300991 OMIM:244400 OMIM:606763 OMIM:612650 OMIM:615872 OMIM:615504 OMIM:615505 OMIM:615500 OMIM:615294 OMIM:618801 |
|
| label |
Primary ciliary dyskinesia |
|
| notation |
ORPHA:244 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_399813 http://www.orpha.net/ORDO/Orphanet_156171 |
|
| prefixIRI |
ORDO:Orphanet_244 |
|
| prefLabel |
Primary ciliary dyskinesia |
|
| present_in |
Europe AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Pakistan AND has_point_prevalence_average_value : 44.0 AND has_point_prevalence_range : 1-5 / 10 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_399813 http://www.orpha.net/ORDO/Orphanet_156171 |
|
| subClassOf |