OBO ID: DOID:0110621
Term Name: primary ciliary dyskinesia 17 Search Ontology:
Synonyms:
  • CILD17
  • primary ciliary dyskinesia 17 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. (2)
References:
Ontology: Human Disease   ( DOID:0110621 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 17 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCDC103 Ciliary dyskinesia, primary, 17 614679
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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