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Disease Ontology Browser
primary ciliary dyskinesia 14 (DOID:0110598)
Synonyms: CILD14; primary ciliary dyskinesia 14 with or without situs inversus
Alt IDs: OMIM:613807, ICD10CM:Q34.8, ORDO:244
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory