OBO ID: DOID:0110604 |
Term Name: | primary ciliary dyskinesia 18 | Search Ontology: | |
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Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. (2) | ||
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Ontology: | Human Disease ( DOID:0110604 ) |
OTHER primary ciliary dyskinesia 18 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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