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Metadata
ID DOID:0110597
Name primary ciliary dyskinesia 22
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21.
https://www.ncbi.nlm.nih.gov/pubmed/23891469, https://www.ncbi.nlm.nih.gov/pubmed/23891471
Xrefs

ICD10CM:Q34.8

OMIM:615444

Synonyms

CILD22 [EXACT]

primary ciliary dyskinesia 22 with or without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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