OBO ID: DOID:0110623
Term Name: primary ciliary dyskinesia 15 Search Ontology:
Synonyms:
  • CILD15
  • primary ciliary dyskinesia 15 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. (2)
References:
Ontology: Human Disease   ( DOID:0110623 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 15 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCDC40 Ciliary dyskinesia, primary, 15 613808
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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