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Metadata
ID DOID:0110613
Name primary ciliary dyskinesia 16
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.
https://www.ncbi.nlm.nih.gov/pubmed/21496787, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Xrefs

ICD10CM:Q34.8

OMIM:614017

Synonyms

CILD16 [EXACT]

primary ciliary dyskinesia 16 with or without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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