Primary Ciliary Dyskinesia 22
Disease ID: disease_node_14668
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q34.8, MIM:615444 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD22, primary ciliary dyskinesia 22 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 22 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. |
| Has Symptom | SYMP_0000686 |
| Disease Node Id | disease_node_14668 |
| Doid Id | DOID_0110597 |
| Label | Primary Ciliary Dyskinesia 22 |
- Outgoing r'ship
HAS_SYMPTOMto/from Chronic Cough(ID:disease_node_889;disease_node_21176) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)