FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term primary ciliary dyskinesia 3 ID (Ontology) DOID:0110599 (Human Disease)
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.
Also Known As "CILD3" ; "primary ciliary dyskinesia 3 with or without situs inversus"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 primary ciliary dyskinesia 3       2
 for disease ribbon | primary ciliary dyskinesia 3       2
 model of | primary ciliary dyskinesia 3       2
Spanning Tree (Parents/Children)
Only view relationship: 
  ciliopathy
   |__primary ciliary dyskinesia
       |__primary ciliary dyskinesia 3  2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a primary ciliary dyskinesia
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "CILD3" EXACT OMO:0003012
    "primary ciliary dyskinesia 3 with or without situs inversus" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:Q34.8
MIM:608644