Term Name: | primary ciliary dyskinesia 34 |
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Synonyms: | CILD34, primary ciliary dyskinesia 34 without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. |
Ontology: | Human Disease [DOID:0110610] ( DOID:0110610 ) |