About   Help   FAQ
Disease Ontology Browser
primary ciliary dyskinesia 40 (DOID:0111853)
Alliance: disease page
Synonyms: CILD40; primary ciliary dyskinesia 40 with or without situs inversus
Alt IDs: OMIM:618300
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory