Search Ontology:
Human Disease

primary ciliary dyskinesia 27

Term ID
DOID:0110611
Synonyms
  • CILD27
  • primary ciliary dyskinesia 27 without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/24094744
References
Ontology
Human Disease   ( DOID:0110611 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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