OBO ID: DOID:0110598
Term Name: primary ciliary dyskinesia 14 Search Ontology:
Synonyms:
  • CILD14
  • primary ciliary dyskinesia 14 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. (2)
References:
Ontology: Human Disease   ( DOID:0110598 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCDC39 Ciliary dyskinesia, primary, 14 613807
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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