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Disease Ontology Browser
primary ciliary dyskinesia 12 (DOID:0110601)
Synonyms: CILD12; primary ciliary dyskinesia 12 without situs inversus
Alt IDs: OMIM:612650, ICD10CM:Q34.8, ORDO:244
Definition: A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21.


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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
04/18/2017
MGI 6.08
The Jackson Laboratory