OBO ID: DOID:0110602
Term Name: primary ciliary dyskinesia 11 Search Ontology:
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)
OTHER primary ciliary dyskinesia 11 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RSPH4A Ciliary dyskinesia, primary, 11 612649
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None