Primary Ciliary Dyskinesia 16
Disease ID: disease_node_14653
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:Q34.8, MIM:614017 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD16, primary ciliary dyskinesia 16 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 16 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. |
| Disease Node Id | disease_node_14653 |
| Doid Id | DOID_0110613 |
| Label | Primary Ciliary Dyskinesia 16 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)