Term Name: | primary ciliary dyskinesia 21 |
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Synonyms: | CILD21, primary ciliary dyskinesia 21 without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. |
Ontology: | Human Disease [DOID:0110596] ( DOID:0110596 ) |