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Disease Ontology Browser
primary ciliary dyskinesia 47 and lissencephaly (DOID:0070760)
Alliance: disease page
Synonyms: CILD47
Alt IDs: OMIM:619466, UMLS_CUI:C5561951
Definition: A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood and neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum, that has_material_basis_in homozygous mutation in the TP73 gene on chromosome 1p36. Situs abnormalities have not been reported.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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07/14/2026
MGI 6.24 		The Jackson Laboratory