Primary Ciliary Dyskinesia 32
Disease ID: disease_node_14663
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| Dbxref | ICD10CM:Q34.8, MIM:616481 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD32, primary ciliary dyskinesia 32 without situs inversus |
| Doid Label | primary ciliary dyskinesia 32 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. |
| Disease Node Id | disease_node_14663 |
| Doid Id | DOID_0110603 |
| Label | Primary Ciliary Dyskinesia 32 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)