OBO ID: DOID:0110625
Term Name: primary ciliary dyskinesia 20 Search Ontology:
Synonyms:
  • CILD20
  • primary ciliary dyskinesia 20 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. (2)
References:
Ontology: Human Disease   ( DOID:0110625 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCDC114 Ciliary dyskinesia, primary, 20 615067
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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