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Metadata
ID DOID:0110626
Name primary ciliary dyskinesia 2
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.
https://www.ncbi.nlm.nih.gov/pubmed/22387996, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Xrefs

ICD10CM:Q34.8

MIM:606763

Synonyms

CILD2 [EXACT]

primary ciliary dyskinesia 2 with or without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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