OBO ID: DOID:0110607
Term Name: primary ciliary dyskinesia 28 Search Ontology:
Synonyms:
  • CILD28
  • primary ciliary dyskinesia 28 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 upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. (2)
References:
Ontology: Human Disease   (DOID:0110607)
OTHER primary ciliary dyskinesia 28 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SPAG1 Ciliary dyskinesia, primary, 28 615505
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None