Term Name: | primary ciliary dyskinesia 1 |
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Synonyms: | CILD1, primary ciliary dyskinesia 1 with or without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. |
Ontology: | Human Disease [DOID:0110594] ( DOID:0110594 ) |