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primary ciliary dyskinesia 40
Summary
- Synonym
-
- CILD40
- primary ciliary dyskinesia 40 with or without situs inversus
- Definition
- A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12.
- Super Class
- autosomal recessive disease primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0111853
- Mondo Disease Ontology
- OMIM
