Search Ontology:
Human Disease
primary ciliary dyskinesia 14
- Term ID
- DOID:0110598
- Synonyms
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- CILD14
- primary ciliary dyskinesia 14 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. (2)
- References
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- ICD10CM:Q34.8
- MIM:613807
- Ontology
- Human Disease ( DOID:0110598 )
- is a type of
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