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primary ciliary dyskinesia

Disease Summary
Associated Targets (54)
Tbio

45

Tdark

8

Tchem

1


GARD Rare
Mondo Description Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
Disease Ontology Description A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.
Mondo Term and Equivalent IDs
MONDO:0016575:  primary ciliary dyskinesia
GARD:0004484: 
GARD:0006815: 
MESH:D002925: 
MESH:D007619: 
NCIT:C84797: 
OMIMPS:244400: 
Orphanet:244: 
SCTID:42402006: 
SCTID:86204009: 
UMLS:C0008780: