OBO ID: DOID:0110613
Term Name: primary ciliary dyskinesia 16 Search Ontology:
Synonyms:
  • CILD16
  • primary ciliary dyskinesia 16 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. (2)
References:
Ontology: Human Disease   ( DOID:0110613 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 16 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAL1 Ciliary dyskinesia, primary, 16 614017
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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