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Metadata
ID DOID:0110609
Name primary ciliary dyskinesia 23
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.
https://www.ncbi.nlm.nih.gov/pubmed/23849778, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Xrefs

ICD10CM:Q34.8

OMIM:615451

Synonyms

CILD23 [EXACT]

primary ciliary dyskinesia 23 with or without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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