Visualize Submit Comment
Metadata
ID DOID:0061288
PURL http://purl.obolibrary.org/obo/DOID_0061288 Copy
Name glycogen storage disease XIII
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/
Xrefs

MIM:612932

Parent Relationships

is_a autosomal recessive disease

is_a glycogen storage disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker