Search Ontology:
Human Disease

primary ciliary dyskinesia 24

Term ID
DOID:0110628
Synonyms
  • CILD24
  • primary ciliary dyskinesia 24 without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/23993197
References
Ontology
Human Disease   ( DOID:0110628 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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