Primary Ciliary Dyskinesia 26
Disease ID: disease_node_14639
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| Dbxref | ICD10CM:Q34.8, MIM:615500 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD26, primary ciliary dyskinesia 26 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 26 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. |
| Disease Node Id | disease_node_14639 |
| Doid Id | DOID_0110627 |
| Label | Primary Ciliary Dyskinesia 26 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)