OBO ID: DOID:0110608
Term Name: primary ciliary dyskinesia 19 Search Ontology:
Synonyms:
  • CILD19
  • primary ciliary dyskinesia 19 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. (2)
References:
Ontology: Human Disease   ( DOID:0110608 )
OTHER primary ciliary dyskinesia 19 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LRRC6 Ciliary dyskinesia, primary, 19 614935
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None