OBO ID: DOID:0110618
Term Name: primary ciliary dyskinesia 13 Search Ontology:
Synonyms:
  • CILD13
  • primary ciliary dyskinesia 13 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. (2)
References:
Ontology: Human Disease   ( DOID:0110618 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNAAF1 Ciliary dyskinesia, primary, 13 613193
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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