Search Ontology:
Human Disease
primary ciliary dyskinesia 33
- Term ID
- DOID:0110619
- Synonyms
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- CILD33
- primary ciliary dyskinesia 33 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. https://www.ncbi.nlm.nih.gov/pubmed/26387594
- References
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- ICD10CM:Q34.8
- MIM:616726
- Ontology
- Human Disease ( DOID:0110619 )
- is a type of
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Genes Involved
Zebrafish Models