Search Ontology:
Human Disease
primary ciliary dyskinesia 29
- Term ID
- DOID:0110600
- Synonyms
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- CILD29
- primary ciliary dyskinesia 29 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. (2)
- References
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- ICD10CM:Q34.8
- MIM:615872
- Ontology
- Human Disease ( DOID:0110600 )
- is a type of
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