primary ciliary dyskinesia 35

Term ID

DOID:0110620

Synonyms

• CILD35
• primary ciliary dyskinesia 35 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. https://www.ncbi.nlm.nih.gov/pubmed/27486780

References

• OMIM:617092

Ontology

Human Disease   ( DOID:0110620 )