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Primary Ciliary Dyskinesia 5

Disease ID: disease_node_14649

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DbxrefICD10CM:Q34.8, MIM:608647
SubclassofDOID_9562
Data SourceDOID
SynonymsCILD5, primary ciliary dyskinesia 5 without situs inversus
Doid Labelprimary ciliary dyskinesia 5
Doid DescriptionA primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22.
Disease Node Iddisease_node_14649
Doid IdDOID_0110617
LabelPrimary Ciliary Dyskinesia 5