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Human Disease
primary ciliary dyskinesia 15
- Term ID
- DOID:0110623
- Synonyms
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- CILD15
- primary ciliary dyskinesia 15 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. (2)
- References
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- ICD10CM:Q34.8
- MIM:613808
- Ontology
- Human Disease ( DOID:0110623 )
- is a type of
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