Search Ontology:
Human Disease
primary ciliary dyskinesia 38
- Term ID
- DOID:0111852
- Synonyms
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- CILD38
- primary ciliary dyskinesia 38 with or without situs inversus
- Definition
- A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. (2)
- References
- Ontology
- Human Disease ( DOID:0111852 )
- is a type of
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Zebrafish Models