Search Ontology:
Human Disease

glycogen storage disease XII

Term ID
DOID:0061287
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. https://pubmed.ncbi.nlm.nih.gov/2825199/
References
Ontology
Human Disease   ( DOID:0061287 )
Relationships
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Genes Involved
Zebrafish Models