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Keyword Primary ciliary dyskinesia

UniProtKB (24) rdf/xml obo
DefinitionProtein which, if defective, causes primary ciliary dyskinesia, a rare and genetically heterogeneous disorder characterized by sino-pulmonary disease, laterality defects and male infertility. Primary ciliary dyskinesia is due to dysfunction of motile cilia and flagella in various organ systems.
Synonyms CILD
PCD
Immotile cilia syndrome
ICS
CategoryDisease
GraphicalCiliopathyPrimary ciliary dyskinesiaDisease
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BroaderCiliopathy
NarrowerKartagener syndrome