Search Ontology:
Human Disease

primary ciliary dyskinesia 21

Term ID
DOID:0110596
Synonyms
  • CILD21
  • primary ciliary dyskinesia 21 without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. (2)
References
Ontology
Human Disease   ( DOID:0110596 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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