OBO ID: DOID:0110611
Term Name: primary ciliary dyskinesia 27 Search Ontology:
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 primary ciliary dyskinesia 27 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCDC65 Ciliary dyskinesia, primary, 27 615504
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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