Term Name: | primary ciliary dyskinesia 3 |
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Synonyms: | CILD3, primary ciliary dyskinesia 3 with or without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. |
Ontology: | Human Disease [DOID:0110599] ( DOID:0110599 ) |