OBO ID: DOID:0111850
Term Name: primary ciliary dyskinesia 36 Search Ontology:
Synonyms:
  • CILD36
  • X-linked primary ciliary dyskinesia 36
Definition: A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. https://www.ncbi.nlm.nih.gov/pubmed/28041644
References:
Ontology: Human Disease   ( DOID:0111850 )
OTHER primary ciliary dyskinesia 36 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIH1D3 Ciliary dyskinesia, primary, 36, X-linked 300991
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None