primary ciliary dyskinesia 1

Term ID

DOID:0110594

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. (2)

References

• ICD10CM:Q34.8
• OMIM:244400

Ontology

Human Disease   ( DOID:0110594 )