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Primary Ciliary Dyskinesia 9

Disease ID: disease_node_14644

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DbxrefICD10CM:Q34.8, MIM:612444
SubclassofDOID_9562
Data SourceDOID
SynonymsCILD9, primary ciliary dyskinesia 9 with or without situs inversus
Doid Labelprimary ciliary dyskinesia 9
Doid DescriptionA primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.
Disease Node Iddisease_node_14644
Doid IdDOID_0110622
LabelPrimary Ciliary Dyskinesia 9