WormBase Tree Display for DO_term: DOID:0111851
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| DOID:0111851 | Name | primary ciliary dyskinesia 44 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. | ||||
| Synonym | Exact | CILD44 | |||
| primary ciliary dyskinesia 44 without situs inversus | |||||
| Parent | Is_a | DOID:9562 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 618781 | |
| Attribute_of | Gene_by_orthology | WBGene00017033 |
