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| Term | primary hyperoxaluria | ID (Ontology) | DOID:2977 (Human Disease) | |||||
| Definition | A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. | |||||||
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inherited metabolic disorder |__carbohydrate metabolic disorder |__primary hyperoxaluria 8 rec. |__primary hyperoxaluria type 1 3 rec. |__primary hyperoxaluria type 2 4 rec. |__primary hyperoxaluria type 3 |
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| Is a | carbohydrate metabolic disorder | ||
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ICD10CM:E72.53 ICD10CM:R82.992 MESH:D006959 MESH:D006960 MIM:PS259900 NCI:C123158 ORDO:416 SNOMEDCT_US_2023_03_01:190766003 SNOMEDCT_US_2023_03_01:367621000119107 UMLS_CUI:C0020500 UMLS_CUI:C0020501 |
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