Disease association ontology term - MONDO:0100337 - SEC61A1 deficiency
Term summary
- ID
- MONDO:0100337
- Name
- SEC61A1 deficiency
- Ontology or CV name
- Disease association
- Definition
- Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.
