|
General Information
|
| Term |
primary ciliary dyskinesia 9 |
ID (Ontology) |
DOID:0110622 (Human Disease) |
| Definition |
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. |
| Also Known As |
"CILD9" ; "primary ciliary dyskinesia 9 with or without situs inversus" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes | Human Disease Models |
|---|
primary ciliary dyskinesia 9 | 3 | 1 | for disease ribbon | primary ciliary dyskinesia 9 | 3 | -- | model of | primary ciliary dyskinesia 9 | 3 | -- |
|
Relationships