Metadata | |
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ID | DOID:0110611 |
Name | primary ciliary dyskinesia 27 |
Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/24094744 |
Xrefs | |
Synonyms |
CILD27 [EXACT] primary ciliary dyskinesia 27 without situs inversus [EXACT] |
Parent Relationships |