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Disease Ontology Browser
primary ciliary dyskinesia 39 (DOID:0111854)
Alliance: disease page
Synonyms: CILD39; primary ciliary dyskinesia 39 with or without situs inversus
Alt IDs: OMIM:618254
Definition: A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.


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)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory