Glutathione synthetase deficiency
Symptom Information:
| Symptom ID: | HPO:0003343 | ||
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HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of metabolism/homeostasis(HPO:0001939) Glutathione synthetase deficiency(HPO:0003343) MedDRA: |
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| Database Frequency: | 2 / 7739 | ||
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All diseases associated with this symptom:
| Glutathione synthetase deficiency with 5-oxoprolinuria | (Orphanet:289846) |
| Glutathione synthetase deficiency without 5-oxoprolinuria | (Orphanet:289849) |