OBO ID: DOID:0111850 |
Term Name: | primary ciliary dyskinesia 36 | Search Ontology: | |
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Definition: | A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. https://www.ncbi.nlm.nih.gov/pubmed/28041644 | ||
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Ontology: | Human Disease ( DOID:0111850 ) |
OTHER primary ciliary dyskinesia 36 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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