Metadata | |
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ID | DOID:0110618 |
Name | primary ciliary dyskinesia 13 |
Definition | A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. https://www.ncbi.nlm.nih.gov/pubmed/19944400, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
Xrefs | |
Synonyms |
CILD13 [EXACT] primary ciliary dyskinesia 13 with or without situs inversus [EXACT] |
Parent Relationships |