Primary Ciliary Dyskinesia 30
Disease ID: disease_node_14642
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| Dbxref | ICD10CM:Q34.8, MIM:616037 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD30, primary ciliary dyskinesia 30 without situs inversus |
| Doid Label | primary ciliary dyskinesia 30 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. |
| Disease Node Id | disease_node_14642 |
| Doid Id | DOID_0110624 |
| Label | Primary Ciliary Dyskinesia 30 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)