Primary Ciliary Dyskinesia 2
Disease ID: disease_node_14640
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q34.8, MIM:606763 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD2, primary ciliary dyskinesia 2 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 2 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. |
| Has Symptom | SYMP_0000686 |
| Disease Node Id | disease_node_14640 |
| Doid Id | DOID_0110626 |
| Label | Primary Ciliary Dyskinesia 2 |
- 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)