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Metadata
ID DOID:0111858
Name primary ciliary dyskinesia 41
Definition A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.
https://www.ncbi.nlm.nih.gov/pubmed/30665704
Xrefs

OMIM:618449

Synonyms

CILD41 [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

is_a autosomal recessive disease

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