Search Ontology:
Human Disease

primary ciliary dyskinesia 3

Term ID
DOID:0110599
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models