Metadata | |
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ID | DOID:0110601 |
Name | primary ciliary dyskinesia 12 |
Definition | A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/19200523 |
Xrefs | |
Synonyms |
CILD12 [EXACT] primary ciliary dyskinesia 12 without situs inversus [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has symptom some chronic cough has symptom some wet cough disease has feature some bronchiectasis |