Search Ontology:
Human Disease
primary ciliary dyskinesia 3
- Term ID
- DOID:0110599
- Synonyms
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- CILD3
- primary ciliary dyskinesia 3 with or without situs inversus
- 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. (2)
- References
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- ICD10CM:Q34.8
- OMIM:608644
- Ontology
- Human Disease ( DOID:0110599 )
- is a type of
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