Metadata | |
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ID | DOID:0110612 |
Name | primary ciliary dyskinesia 10 |
Definition | A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. https://www.ncbi.nlm.nih.gov/pubmed/19052621 |
Xrefs | |
Synonyms |
CILD10 [EXACT] primary ciliary dyskinesia 10 with or without situs inversus [EXACT] |
Parent Relationships |