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primary ciliary dyskinesia 1
Disease Summary
Associated Targets (27)
Tbio
24
Tdark
3
Mondo Description Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.
Uniprot Description An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110594
OMIM:244400
MONDO:0009484
High level summary of knowledge for a disease, including descriptions and datasource references.