OBO ID: DOID:0110627
Term Name: primary ciliary dyskinesia 26 Search Ontology:
Synonyms:
  • CILD26
  • primary ciliary dyskinesia 26 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. (2)
References:
Ontology: Human Disease   ( DOID:0110627 )
OTHER primary ciliary dyskinesia 26 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CFAP298 Ciliary dyskinesia, primary, 26 615500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None