OBO ID: DOID:0110626
Term Name: primary ciliary dyskinesia 2 Search Ontology:
Synonyms:
  • CILD2
  • primary ciliary dyskinesia 2 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. (2)
References:
Ontology: Human Disease   ( DOID:0110626 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAAF3 Ciliary dyskinesia, primary, 2 606763
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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