Search Ontology:
Human Disease

primary ciliary dyskinesia 50

Term ID
DOID:0070763
Synonyms
  • CILD50
Definition
A primary ciliary dyskinesia characterized by chronic sinusitis, bronchitis, and male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella resulting from defects or loss of the inner dynein arms of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH7 gene on chromosome 2q32. (3)
References
Ontology
Human Disease   ( DOID:0070763 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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