OBO ID: DOID:0110628 |
Term Name: | primary ciliary dyskinesia 24 | Search Ontology: | |
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Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/23993197 | ||
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Ontology: | Human Disease ( DOID:0110628 ) |
OTHER primary ciliary dyskinesia 24 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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