OBO ID: DOID:0111270 |
Term Name: | isolated sulfite oxidase deficiency | Search Ontology: | |
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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. (3) | ||
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Ontology: | Human Disease ( DOID:0111270 ) |
OTHER isolated sulfite oxidase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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