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General Information
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| Term |
primary ciliary dyskinesia 22 |
ID (Ontology) |
DOID:0110597 (Human Disease) |
| Definition |
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. |
| Also Known As |
"CILD22" ; "primary ciliary dyskinesia 22 with or without situs inversus" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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primary ciliary dyskinesia 22 | 1 | 1 | for disease ribbon | primary ciliary dyskinesia 22 | 1 | -- | model of | primary ciliary dyskinesia 22 | 1 | -- |
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Relationships