Search Ontology:
Human Disease

primary ciliary dyskinesia 13

Term ID
DOID:0110618
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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