Search Ontology:
Human Disease

primary ciliary dyskinesia 46

Term ID
DOID:0070758
Synonyms
  • CILD46
Definition
A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that has_material_basis_in homozygous mutation in the STK36 gene on chromosome 2q35. Situs abnormalities have not been reported. (2)
References
Ontology
Human Disease   ( DOID:0070758 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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