Search Ontology:
Human Disease
primary ciliary dyskinesia 28
- Term ID
- DOID:0110607
- Synonyms
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- CILD28
- primary ciliary dyskinesia 28 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. (2)
- References
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- ICD10CM:Q34.8
- MIM:615505
- Ontology
- Human Disease ( DOID:0110607 )
- is a type of
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