Disease association ontology term - MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome
Term summary
- ID
- MONDO:0012992
- Name
- pancreatic insufficiency-anemia-hyperostosis syndrome
- Ontology or CV name
- Disease association
- Definition
- A rare syndromic mitochondrial disease in which the cause of the disease is a mutation in the COX4I2 gene. It is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
