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Human Disease
primary ciliary dyskinesia 19
- Term ID
- DOID:0110608
- Synonyms
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- CILD19
- primary ciliary dyskinesia 19 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. (2)
- References
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- ICD10CM:Q34.8
- OMIM:614935
- Ontology
- Human Disease ( DOID:0110608 )
- is a type of
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