Term Name: primary ciliary dyskinesia 53
Synonyms: CILD53
Definition: A primary ciliary dyskinesia characterized by randomization of the left-right body asymmetry and respiratory symptoms that has_material_basis_in homozygous mutation in the CLXN gene on chromosome 8q11.
Ontology: Human Disease [DOID:0070766]   ( DOID:0070766 )

Relationships
is a type of: autosomal recessive disease primary ciliary dyskinesia