glycogen storage disease XIII

Term ID

DOID:0061288

Synonyms

Definition

A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the ENO3 gene, which encodes beta-enolase, on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/31741825/

References

• MIM:612932

Ontology

Human Disease   ( DOID:0061288 )