Search Ontology:
Human Disease

primary ciliary dyskinesia 5

Term ID
DOID:0110617
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models