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Metadata
ID DOID:0111851
Name primary ciliary dyskinesia 44
Definition A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1.
https://www.ncbi.nlm.nih.gov/pubmed/31959991
Xrefs

OMIM:618781

Synonyms

CILD44 [EXACT]

primary ciliary dyskinesia 44 without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

is_a autosomal recessive disease

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