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primary ciliary dyskinesia

Disease Summary
Associated Targets (52)
Tbio

43

Tdark

8

Tchem

1


Explore Associated Targets
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: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

6785

Tdark

1441

Tchem

1308

Tclin

455

Tbio

3563

Tchem

726

Tdark

516

Tclin

395

Tbio

127

Tdark

15

Tchem

3

Tclin

1

Children
Target Novelty (Tin-x)