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Metadata
ID DOID:0061285
PURL http://purl.obolibrary.org/obo/DOID_0061285 Copy
Name glycogen storage disease X
Definition A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the PGAM2 gene, which encodes muscle phosphoglycerate mutase, on chromosome 7p13.
https://pubmed.ncbi.nlm.nih.gov/6262916/
Xrefs

MIM:261670

Parent Relationships

is_a autosomal recessive disease

is_a glycogen storage disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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