Metadata | |
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ID | DOID:0110619 |
Name | primary ciliary dyskinesia 33 |
Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. https://www.ncbi.nlm.nih.gov/pubmed/26387594 |
Xrefs | |
Synonyms |
CILD33 [EXACT] primary ciliary dyskinesia 33 without situs inversus [EXACT] |
Parent Relationships |