OBO ID: DOID:0110622
Term Name: primary ciliary dyskinesia 9 Search Ontology:
Synonyms:
  • CILD9
  • primary ciliary dyskinesia 9 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. (2)
References:
Ontology: Human Disease   ( DOID:0110622 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus 612444
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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