OBO ID: DOID:0111857 |
Term Name: | primary ciliary dyskinesia 45 | Search Ontology: | |
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Definition: | A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. https://www.ncbi.nlm.nih.gov/pubmed/31978331 | ||
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Ontology: | Human Disease ( DOID:0111857 ) |
OTHER primary ciliary dyskinesia 45 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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