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Human Disease

primary ciliary dyskinesia 22

Term ID
DOID:0110597
Synonyms
  • CILD22
  • primary ciliary dyskinesia 22 with or without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. (2)
References
Ontology
Human Disease   ( DOID:0110597 )
Relationships
is a type of
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Genes Involved
Zebrafish Models