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Human Disease

primary ciliary dyskinesia 11

Term ID
DOID:0110602
Synonyms
  • CILD11
  • primary ciliary dyskinesia 11 without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. https://www.ncbi.nlm.nih.gov/pubmed/19200523
References
Ontology
Human Disease   ( DOID:0110602 )
Relationships
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Genes Involved
Zebrafish Models