Search Ontology:
Human Disease
primary ciliary dyskinesia 2
- Term ID
- DOID:0110626
- Synonyms
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- CILD2
- primary ciliary dyskinesia 2 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. (2)
- References
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- ICD10CM:Q34.8
- MIM:606763
- Ontology
- Human Disease ( DOID:0110626 )
- is a type of
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