primary ciliary dyskinesia 34

Term ID

DOID:0110610

Synonyms

• CILD34
• primary ciliary dyskinesia 34 without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/27486783

References

• OMIM:617091

Ontology

Human Disease   ( DOID:0110610 )