Term Name: | primary ciliary dyskinesia 24 |
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Synonyms: | CILD24, primary ciliary dyskinesia 24 without situs inversus |
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. |
Ontology: | Human Disease [DOID:0110628] ( DOID:0110628 ) |