OBO ID: DOID:0110624
Term Name: primary ciliary dyskinesia 30 Search Ontology:
Synonyms:
  • CILD30
  • primary ciliary dyskinesia 30 without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. (2)
References:
Ontology: Human Disease   ( DOID:0110624 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 30 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCDC151 Ciliary dyskinesia, primary, 30 616037
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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