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).

Synonyms: PCD

This is just here as a test because I lose it

Term information

database cross reference
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244

hasDbXref

OMIM:608646

OMIM:606763

OMIM:608647

OMIM:608644

OMIM:618695

OMIM:615481

OMIM:615067

OMIM:615482

OMIM:242670

OMIM:615444

OMIM:612274

OMIM:215518

OMIM:615500

OMIM:616037

OMIM:612650

OMIM:615504

OMIM:614679

OMIM:614874

OMIM:611884

OMIM:614017

OMIM:614935

OMIM:610852

OMIM:615505

OMIM:612518

OMIM:613807

OMIM:613808

OMIM:300991

OMIM:244400

OMIM:617092

OMIM:617091

OMIM:616481

OMIM:615294

OMIM:613193

OMIM:615451

OMIM:618063

OMIM:242680

OMIM:618781

OMIM:618449

OMIM:618801

OMIM:617577

ICD-10:Q34.8

OMIM:615872

OMIM:612444

OMIM:215520

OMIM:616726

OMIM:612649

MedDRA:10069713

has age of onset

http://www.orpha.net/ORDO/Orphanet_409944

has birth prevalence range

http://www.orpha.net/ORDO/Orphanet_409977

has inheritance

http://www.orpha.net/ORDO/Orphanet_409929

http://www.orpha.net/ORDO/Orphanet_409932

http://www.orpha.net/ORDO/Orphanet_409930

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409975

notation

ORPHA:244

part of

http://www.orpha.net/ORDO/Orphanet_156171

http://www.orpha.net/ORDO/Orphanet_399813

http://www.orpha.net/ORDO/Orphanet_156610

http://www.orpha.net/ORDO/Orphanet_101944

present in

http://www.orpha.net/ORDO/Orphanet_410159

http://www.orpha.net/ORDO/Orphanet_409984

Term relations

Subclass of:

Related from:
disease-causing germline mutation(s) in