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Metadata
ID DOID:0110619
Name primary ciliary dyskinesia 33
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24.
https://www.ncbi.nlm.nih.gov/pubmed/26387594
Xrefs

ICD10CM:Q34.8

OMIM:616726

Synonyms

CILD33 [EXACT]

primary ciliary dyskinesia 33 without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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