OBO ID: DOID:0110604
Term Name: primary ciliary dyskinesia 18 Search Ontology:
Synonyms:
  • CILD18
  • primary ciliary dyskinesia 18 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. (2)
References:
Ontology: Human Disease   ( DOID:0110604 )
OTHER primary ciliary dyskinesia 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAAF5 Ciliary dyskinesia, primary, 18 614874
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None