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General Information
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| Term |
primary ciliary dyskinesia 32 |
ID (Ontology) |
DOID:0110603 (Human Disease) |
| Definition |
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. |
| Also Known As |
"CILD32" ; "primary ciliary dyskinesia 32 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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No relevant records available
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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 |
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primary ciliary dyskinesia 32 | 1 | for disease ribbon | primary ciliary dyskinesia 32 | 1 | model of | primary ciliary dyskinesia 32 | 1 |
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