Primary Ciliary Dyskinesia 11
Disease ID: disease_node_14637
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:Q34.8, MIM:612649 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD11, primary ciliary dyskinesia 11 without situs inversus |
| Disease Has Feature | DOID_9563 |
| Doid Label | primary ciliary dyskinesia 11 |
| Doid Description | A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. |
| Has Symptom | SYMP_0000686, SYMP_0000475, SYMP_0020027 |
| Disease Node Id | disease_node_14637 |
| Doid Id | DOID_0110602 |
| Label | Primary Ciliary Dyskinesia 11 |
- Outgoing r'ship
HAS_SYMPTOMto/from Chronic Cough(ID:disease_node_889;disease_node_21176) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Wet Cough(ID:disease_node_21172) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Underweight(ID:disease_node_21471) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)