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Metadata
DOID DOID:0110623
Name primary ciliary dyskinesia 15
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.
https://www.ncbi.nlm.nih.gov/pubmed/21131974, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Synonyms

CILD15 [EXACT]

primary ciliary dyskinesia 15 with or without situs inversus [EXACT]

Xrefs

ICD10CM:Q34.8

OMIM:613808

Relationships

is_a primary ciliary dyskinesia

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