primary ciliary dyskinesia 4

Term ID

DOID:0110614

Synonyms

• CILD4
• primary ciliary dyskinesia 4 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. https://www.ncbi.nlm.nih.gov/pubmed/14985390

References

• ICD10CM:Q34.8
• OMIM:608646

Ontology

Human Disease   ( DOID:0110614 )