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primary ciliary dyskinesia 1
Summary
- Synonym
-
- CILD1
- primary ciliary dyskinesia 1 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110594
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
