Search Ontology:
Human Disease
primary ciliary dyskinesia 21
- Term ID
- DOID:0110596
- Synonyms
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- CILD21
- primary ciliary dyskinesia 21 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. (2)
- References
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- ICD10CM:Q34.8
- OMIM:615294
- Ontology
- Human Disease ( DOID:0110596 )
- is a type of
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