Search Ontology:
Human Disease
primary ciliary dyskinesia 18
- Term ID
- DOID:0110604
- Synonyms
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- CILD18
- primary ciliary dyskinesia 18 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. (2)
- References
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- ICD10CM:Q34.8
- MIM:614874
- Ontology
- Human Disease ( DOID:0110604 )
- is a type of
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