Metadata | |
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ID | DOID:0110606 |
Name | primary ciliary dyskinesia 6 |
Definition | A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. https://www.ncbi.nlm.nih.gov/pubmed/17360648, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
Xrefs | |
Synonyms |
CILD6 [EXACT] |
Parent Relationships |