Primary Ciliary Dyskinesia 25
Disease ID: disease_node_14651
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| Dbxref | ICD10CM:Q34.8, MIM:615482 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD25, primary ciliary dyskinesia 25 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 25 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. |
| Disease Node Id | disease_node_14651 |
| Doid Id | DOID_0110615 |
| Label | Primary Ciliary Dyskinesia 25 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)