OBO ID: DOID:0110610
Term Name: primary ciliary dyskinesia 34 Search Ontology:
Synonyms:
  • CILD34
  • primary ciliary dyskinesia 34 without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/27486783
References:
Ontology: Human Disease   ( DOID:0110610 )
OTHER primary ciliary dyskinesia 34 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAJB13 Ciliary dyskinesia, primary, 34 617091
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None