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Human Disease
primary ciliary dyskinesia 44
- Term ID
- DOID:0111851
- Synonyms
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- CILD44
- primary ciliary dyskinesia 44 without situs inversus
- Definition
- A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. https://www.ncbi.nlm.nih.gov/pubmed/31959991
- References
- Ontology
- Human Disease ( DOID:0111851 )
- is a type of
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