Term Name: primary ciliary dyskinesia 1
Synonyms: CILD1, primary ciliary dyskinesia 1 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
Ontology: Human Disease [DOID:0110594]   ( DOID:0110594 )

Relationships
is a type of: primary ciliary dyskinesia