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Metadata
ID DOID:0111854
Name primary ciliary dyskinesia 39
Definition A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
https://www.ncbi.nlm.nih.gov/pubmed/30388400
Xrefs

OMIM:618254

Synonyms

CILD39 [EXACT]

primary ciliary dyskinesia 39 with or without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

is_a autosomal recessive disease

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