Primary Ciliary Dyskinesia 18
Disease ID: disease_node_14662
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:Q34.8, MIM:614874 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD18, primary ciliary dyskinesia 18 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 18 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. |
| Disease Node Id | disease_node_14662 |
| Doid Id | DOID_0110604 |
| Label | Primary Ciliary Dyskinesia 18 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)