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Disease Ontology Browser
primary ciliary dyskinesia 28 (DOID:0110607)
Synonyms: CILD28; primary ciliary dyskinesia 28 with or without situs inversus
Alt IDs: OMIM:615505, ICD10CM:Q34.8, ORDO:244
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory