Search Ontology:
Human Disease
primary ciliary dyskinesia 30
- Term ID
- DOID:0110624
- Synonyms
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- CILD30
- primary ciliary dyskinesia 30 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. (2)
- References
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- ICD10CM:Q34.8
- MIM:616037
- Ontology
- Human Disease ( DOID:0110624 )
- is a type of
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