OBO ID: DOID:0111851 |
Term Name: | primary ciliary dyskinesia 44 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111851 ) |
OTHER primary ciliary dyskinesia 44 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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