Term Name: primary ciliary dyskinesia 3
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.
Ontology: Human Disease [DOID:0110599]   ( DOID:0110599 )

Relationships
is a type of: primary ciliary dyskinesia