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Human Disease
primary ciliary dyskinesia 26
- Term ID
- DOID:0110627
- Synonyms
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- CILD26
- primary ciliary dyskinesia 26 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. (2)
- References
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- ICD10CM:Q34.8
- MIM:615500
- Ontology
- Human Disease ( DOID:0110627 )
- is a type of
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