Primary Ciliary Dyskinesia 35
Disease ID: disease_node_14646
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| Dbxref | MIM:617092 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD35, primary ciliary dyskinesia 35 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 35 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. |
| Disease Node Id | disease_node_14646 |
| Doid Id | DOID_0110620 |
| Label | Primary Ciliary Dyskinesia 35 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)