Primary Ciliary Dyskinesia 12
Disease ID: disease_node_14664
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q34.8, MIM:612650 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD12, primary ciliary dyskinesia 12 without situs inversus |
| Disease Has Feature | DOID_9563 |
| Doid Label | primary ciliary dyskinesia 12 |
| Doid Description | A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. |
| Has Symptom | SYMP_0000686, SYMP_0020027 |
| Disease Node Id | disease_node_14664 |
| Doid Id | DOID_0110601 |
| Label | Primary Ciliary Dyskinesia 12 |
- 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
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)