OBO ID: DOID:0110597
Term Name: primary ciliary dyskinesia 22 Search Ontology:
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 )
OTHER primary ciliary dyskinesia 22 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ZMYND10 Ciliary dyskinesia, primary, 22 615444
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None