Metadata | |
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ID | DOID:0110622 |
Name | primary ciliary dyskinesia 9 |
Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/18950741, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
Xrefs | |
Synonyms |
CILD9 [EXACT] primary ciliary dyskinesia 9 with or without situs inversus [EXACT] |
Parent Relationships |