primary ciliary dyskinesia 40

Term ID

DOID:0111853

Synonyms

• CILD40
• primary ciliary dyskinesia 40 with or without situs inversus

Definition

A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. (2)

References

• OMIM:618300

Ontology

Human Disease   ( DOID:0111853 )