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glycogen storage disease Ia
Summary
- 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.
- Super Class
- autosomal recessive disease glycogen storage disease I
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000939 | Osteoporosis |
| HP:0011463 | Childhood onset |
| HP:0001510 | Growth delay |
| HP:0000660 | Lipemia retinalis |
| HP:0002254 | Intermittent diarrhea |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001892 | Abnormal bleeding |
| HP:0003128 | Lactic acidosis |
| HP:0000823 | Delayed puberty |
| HP:0004322 | Short stature |
