| Metadata | |
|---|---|
| ID | DOID:0070763 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070763 Copy |
| Name | primary ciliary dyskinesia 50 |
| Definition | A primary ciliary dyskinesia characterized by chronic sinusitis, bronchitis, and male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella resulting from defects or loss of the inner dynein arms of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH7 gene on chromosome 2q32. https://pubmed.ncbi.nlm.nih.gov/34476482/, https://pubmed.ncbi.nlm.nih.gov/35543642/, https://www.ncbi.nlm.nih.gov/books/NBK1122/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620356 exactMatch UMLS_CUI:C5830473 |
| Subsets |
DO_rare_slim |
| Synonyms |
CILD50 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |