| Metadata | |
|---|---|
| ID | DOID:0110623 |
| Name | primary ciliary dyskinesia 15 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/21131974, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
| Xrefs | |
| Synonyms |
CILD15 [EXACT] primary ciliary dyskinesia 15 with or without situs inversus [EXACT] |
| Parent Relationships |