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Disease Ontology Browser
primary ciliary dyskinesia 38 (DOID:0111852)
Alliance: disease page
Synonyms: CILD38; primary ciliary dyskinesia 38 with or without situs inversus
Alt IDs: OMIM:618063
Definition: A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1.

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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12/10/2024
MGI 6.24 		The Jackson Laboratory