OBO ID: DOID:0110609
Term Name: primary ciliary dyskinesia 23 Search Ontology:
Synonyms:
  • CILD23
  • primary ciliary dyskinesia 23 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. (2)
References:
Ontology: Human Disease   ( DOID:0110609 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 23 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARMC4 Ciliary dyskinesia, primary, 23 615451
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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