OBO ID: DOID:0110603
Term Name: primary ciliary dyskinesia 32 Search Ontology:
Synonyms:
  • CILD32
  • primary ciliary dyskinesia 32 without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. https://www.ncbi.nlm.nih.gov/pubmed/26073779
References:
Ontology: Human Disease   ( DOID:0110603 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 32 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RSPH3 Ciliary dyskinesia, primary, 32 616481
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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