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| Term | isolated sulfite oxidase deficiency | ID (Ontology) | DOID:0111270 (Human Disease) |
| Definition | An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. | ||
| Also Known As | "sulfocysteinuria" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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disease of metabolism |__inherited metabolic disorder__ autosomal genetic disease | |__autosomal recessive disease___| genetic disease | |__inherited metabolic disorder__| isolated sulfite oxidase deficiency 3 rec. |
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| Is a |
autosomal recessive disease inherited metabolic disorder |
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GARD:5062 ICD10CM:E72.19 MESH:C538141 MIM:272300 ORDO:99731 SNOMEDCT_US_2023_03_01:237935000 SNOMEDCT_US_2023_03_01:40873003 UMLS_CUI:C0268624 UMLS_CUI:C2931746 |
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