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Human Disease
primary ciliary dyskinesia 9
- Term ID
- DOID:0110622
- Synonyms
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- CILD9
- primary ciliary dyskinesia 9 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. (2)
- References
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- ICD10CM:Q34.8
- OMIM:612444
- Ontology
- Human Disease ( DOID:0110622 )
- is a type of
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