Search Ontology:
Human Disease
primary ciliary dyskinesia 39
- Term ID
- DOID:0111854
- Synonyms
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- CILD39
- primary ciliary dyskinesia 39 with or without situs inversus
- Definition
- A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. https://www.ncbi.nlm.nih.gov/pubmed/30388400
- References
- Ontology
- Human Disease ( DOID:0111854 )
- is a type of
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