Primary Ciliary Dyskinesia 28
Disease ID: disease_node_14659
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| Dbxref | ICD10CM:Q34.8, MIM:615505 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD28, primary ciliary dyskinesia 28 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 28 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. |
| Disease Node Id | disease_node_14659 |
| Doid Id | DOID_0110607 |
| Label | Primary Ciliary Dyskinesia 28 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)