OBO ID: DOID:0110628
Term Name: primary ciliary dyskinesia 24 Search Ontology:
Synonyms:
  • CILD24
  • primary ciliary dyskinesia 24 without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/23993197
References:
Ontology: Human Disease   (DOID:0110628)
OTHER primary ciliary dyskinesia 24 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RSPH1 Ciliary dyskinesia, primary, 24 615481
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None