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Metadata
DOID DOID:0110604
Name primary ciliary dyskinesia 18
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.
https://www.ncbi.nlm.nih.gov/pubmed/23040496, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Synonyms

CILD18 [EXACT]

primary ciliary dyskinesia 18 with or without situs inversus [EXACT]

Xrefs

ICD10CM:Q34.8

OMIM:614874

Relationships

is_a primary ciliary dyskinesia

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