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Human Disease

primary ciliary dyskinesia 20

Term ID
DOID:0110625
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
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Genes Involved
Zebrafish Models