OBO ID: DOID:0111856
Term Name: primary ciliary dyskinesia 43 Search Ontology:
Synonyms:
  • CILD43
  • primary ciliary dyskinesia 43 with or without situs inversus
Definition: A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/31630787
References:
Ontology: Human Disease   (DOID:0111856)
OTHER primary ciliary dyskinesia 43 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FOXJ1 Ciliary dyskinesia, primary, 43 618699
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None