OBO ID: DOID:0110601
Term Name: primary ciliary dyskinesia 12 Search Ontology:
Synonyms:
  • CILD12
  • primary ciliary dyskinesia 12 without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/19200523
References:
Ontology: Human Disease   ( DOID:0110601 )
Relationships
is a type of:
OTHER primary ciliary dyskinesia 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RSPH9 Ciliary dyskinesia, primary, 12 612650
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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