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Human Disease

primary ciliary dyskinesia 40

Term ID
DOID:0111853
Synonyms
  • CILD40
  • primary ciliary dyskinesia 40 with or without situs inversus
Definition
A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. (2)
References
Ontology
Human Disease   ( DOID:0111853 )
Relationships
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Genes Involved
Zebrafish Models