OBO ID: DOID:0110619
Term Name: primary ciliary dyskinesia 33 Search Ontology:
Synonyms:
  • CILD33
  • primary ciliary dyskinesia 33 without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. https://www.ncbi.nlm.nih.gov/pubmed/26387594
References:
Ontology: Human Disease   ( DOID:0110619 )
OTHER primary ciliary dyskinesia 33 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GAS8 Ciliary dyskinesia, primary, 33 616726
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None