Visualize Submit Comment

Metadata
ID	DOID:0110621
Name	primary ciliary dyskinesia 17
Definition	A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. https://www.ncbi.nlm.nih.gov/pubmed/22581229, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Xrefs	ICD10CM:Q34.8 OMIM:614679
Synonyms	CILD17 [EXACT] primary ciliary dyskinesia 17 with or without situs inversus [EXACT]
Parent Relationships	is_a primary ciliary dyskinesia