Term Name: primary ciliary dyskinesia 5
Synonyms: CILD5, primary ciliary dyskinesia 5 without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22.
Ontology: Human Disease [DOID:0110617]   ( DOID:0110617 )

Relationships
is a type of: primary ciliary dyskinesia