| Metadata | |
|---|---|
| ID | DOID:0111853 |
| Name | primary ciliary dyskinesia 40 |
| Definition | A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. https://www.ncbi.nlm.nih.gov/pubmed/30471717, https://www.ncbi.nlm.nih.gov/pubmed/30471718 |
| Xrefs | |
| Synonyms |
CILD40 [EXACT] primary ciliary dyskinesia 40 with or without situs inversus [EXACT] |
| Parent Relationships |