Primary Ciliary Dyskinesia 3
Disease ID: disease_node_14666
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:Q34.8, MIM:608644 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD3, primary ciliary dyskinesia 3 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 3 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. |
| Disease Node Id | disease_node_14666 |
| Doid Id | DOID_0110599 |
| Label | Primary Ciliary Dyskinesia 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)