OBO ID: DOID:0110596
Term Name: primary ciliary dyskinesia 21 Search Ontology:
Synonyms:
  • CILD21
  • primary ciliary dyskinesia 21 without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. (2)
References:
Ontology: Human Disease   ( DOID:0110596 )
OTHER primary ciliary dyskinesia 21 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DRC1 Ciliary dyskinesia, primary, 21 615294
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None