FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term glycogen storage disease Ia ID (Ontology) DOID:2749 (Human Disease)
Definition A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21.
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 Genes
 glycogen storage disease Ia       1
 for disease ribbon | glycogen storage disease Ia       1
 model of | glycogen storage disease Ia       1
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autosomal genetic disease
 |__autosomal recessive disease__
glycogen storage disease         |
 |__glycogen storage disease I___|
                                 glycogen storage disease Ia  1 rec.
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Is a autosomal recessive disease
glycogen storage disease I
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Synonyms
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GARD:7864
MIM:232200
ORDO:79258