Primary Ciliary Dyskinesia 21
Disease ID: disease_node_14669
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| Dbxref | ICD10CM:Q34.8, MIM:615294 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD21, primary ciliary dyskinesia 21 without situs inversus |
| Doid Label | primary ciliary dyskinesia 21 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. |
| Disease Node Id | disease_node_14669 |
| Doid Id | DOID_0110596 |
| Label | Primary Ciliary Dyskinesia 21 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)