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Human Disease
primary ciliary dyskinesia 1
- Term ID
- DOID:0110594
- Synonyms
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- 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. (2)
- References
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- ICD10CM:Q34.8
- MIM:244400
- Ontology
- Human Disease ( DOID:0110594 )
- is a type of
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