OBO ID: DOID:0110599
Term Name: primary ciliary dyskinesia 3 Search Ontology:
Synonyms:
  • CILD3
  • primary ciliary dyskinesia 3 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. (2)
References:
Ontology: Human Disease   ( DOID:0110599 )
OTHER primary ciliary dyskinesia 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus 608644
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None