OBO ID: DOID:0111855 |
Term Name: | primary ciliary dyskinesia 42 | Search Ontology: | |
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Definition: | A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. https://www.ncbi.nlm.nih.gov/pubmed/25048963 | ||
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Ontology: | Human Disease ( DOID:0111855 ) |
OTHER primary ciliary dyskinesia 42 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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