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Metadata
ID DOID:0061287
PURL http://purl.obolibrary.org/obo/DOID_0061287 Copy
Name glycogen storage disease XII
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.
https://pubmed.ncbi.nlm.nih.gov/2825199/
Xrefs

MIM:611881

Synonyms

aldolase A deficiency [EXACT]

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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