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Disease Ontology Browser
primary ciliary dyskinesia 15 (DOID:0110623)
Alliance: disease page
Synonyms: CILD15; primary ciliary dyskinesia 15 with or without situs inversus
Alt IDs: OMIM:613808, ICD10CM:Q34.8
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.

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