OBO ID: DOID:0110617
Term Name: primary ciliary dyskinesia 5 Search Ontology:
Synonyms:
  • CILD5
  • primary ciliary dyskinesia 5 without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. https://www.ncbi.nlm.nih.gov/pubmed/23022101
References:
Ontology: Human Disease   ( DOID:0110617 )
OTHER primary ciliary dyskinesia 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HYDIN Ciliary dyskinesia, primary, 5 608647
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None