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Disease Ontology Browser
primary ciliary dyskinesia 13 (DOID:0110618)
Synonyms: CILD13; primary ciliary dyskinesia 13 with or without situs inversus
Alt IDs: OMIM:613193, ICD10CM:Q34.8, ORDO:244
Definition: A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory