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Disease Ontology Browser
primary ciliary dyskinesia 3 (DOID:0110599)
Alliance: disease page
Synonyms: CILD3; primary ciliary dyskinesia 3 with or without situs inversus
Alt IDs: OMIM:608644, ICD10CM:Q34.8
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.

Disease References using Mouse Models (3)

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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last database update
MGI 6.21
The Jackson Laboratory