pancreatic insufficiency-anemia-hyperostosis syndrome
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.
MONDO:0001684
exocrine pancreatic insufficiency
is_a
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0019403
congenital dyserythropoietic anemia
is_a
MONDO:0033885
mitochondrial complex IV deficiency, nuclear-type
is_a
pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
exact
SPCC338.10c