primary ciliary dyskinesia 6
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
motile cilia
|
| gptkbp:causedBy |
mutation in CCDC40 gene
|
| gptkbp:hasOrphanetID |
ORPHA:457869
|
| https://www.w3.org/2000/01/rdf-schema#label |
primary ciliary dyskinesia 6
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
613807
|
| gptkbp:symptom |
gptkb:sinusitis
gptkb:bronchiectasis infertility chronic respiratory tract infections |
| gptkbp:synonym |
CILD6
Ciliary dyskinesia, primary, 6 |
| gptkbp:bfsParent |
gptkb:NME8
|
| gptkbp:bfsLayer |
8
|