| Metadata | |
|---|---|
| ID | DOID:0110628 |
| Name | primary ciliary dyskinesia 24 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/23993197 |
| Xrefs | |
| Synonyms |
CILD24 [EXACT] primary ciliary dyskinesia 24 without situs inversus [EXACT] |
| Parent Relationships |