Metadata | |
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ID | DOID:0110617 |
Name | primary ciliary dyskinesia 5 |
Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. https://www.ncbi.nlm.nih.gov/pubmed/23022101 |
Xrefs | |
Synonyms |
CILD5 [EXACT] primary ciliary dyskinesia 5 without situs inversus [EXACT] |
Parent Relationships |