Search Ontology:
Human Disease
primary ciliary dyskinesia 12
- Term ID
- DOID:0110601
- Synonyms
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- CILD12
- primary ciliary dyskinesia 12 without situs inversus
- 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. https://www.ncbi.nlm.nih.gov/pubmed/19200523
- References
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- ICD10CM:Q34.8
- MIM:612650
- Ontology
- Human Disease ( DOID:0110601 )
- is a type of
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