Primary Ciliary Dyskinesia 20
Disease ID: disease_node_14641
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| Dbxref | ICD10CM:Q34.8, MIM:615067 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD20, primary ciliary dyskinesia 20 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 20 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. |
| Disease Node Id | disease_node_14641 |
| Doid Id | DOID_0110625 |
| Label | Primary Ciliary Dyskinesia 20 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)