Term Name: glycogen storage disease XII
Synonyms: aldolase A deficiency
Definition: A glycogen storage disease that has_material_basis_in homozygous mutation in the ALDOA gene which encodes fructose-1,6-bisphosphate aldolase A, on chromosome 16p11.
Ontology: Human Disease [DOID:0061287]   ( DOID:0061287 )

Relationships
is a type of: autosomal recessive disease glycogen storage disease