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Human Disease
primary ciliary dyskinesia 16
- Term ID
- DOID:0110613
- Synonyms
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- CILD16
- primary ciliary dyskinesia 16 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. (2)
- References
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- ICD10CM:Q34.8
- MIM:614017
- Ontology
- Human Disease ( DOID:0110613 )
- is a type of
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