OBO ID: DOID:0110602 |
Term Name: | primary ciliary dyskinesia 11 | Search Ontology: | |
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Definition: | A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. https://www.ncbi.nlm.nih.gov/pubmed/19200523 | ||
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Ontology: | Human Disease ( DOID:0110602 ) |
OTHER primary ciliary dyskinesia 11 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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