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Primary Ciliary Dyskinesia 29

Disease ID: disease_node_14665

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DbxrefICD10CM:Q34.8, MIM:615872
SubclassofDOID_9562
Data SourceDOID
SynonymsCILD29, primary ciliary dyskinesia 29 without situs inversus
Doid Labelprimary ciliary dyskinesia 29
Doid DescriptionA primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
Disease Node Iddisease_node_14665
Doid IdDOID_0110600
LabelPrimary Ciliary Dyskinesia 29