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

MIM:618300

Ontology

Human Disease ( DOID:0111853 )

Relationships

is a type of: autosomal recessive disease primary ciliary dyskinesia

autosomal recessive disease primary ciliary dyskinesia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models