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Metadata
ID DOID:0110622
Name primary ciliary dyskinesia 9
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.
https://www.ncbi.nlm.nih.gov/pubmed/18950741, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Xrefs

ICD10CM:Q34.8

OMIM:612444

Synonyms

CILD9 [EXACT]

primary ciliary dyskinesia 9 with or without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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