primary ciliary dyskinesia 5

Term ID

DOID:0110617

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. https://www.ncbi.nlm.nih.gov/pubmed/23022101

References

• ICD10CM:Q34.8
• OMIM:608647

Ontology

Human Disease   ( DOID:0110617 )