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Disease Ontology Browser
isolated sulfite oxidase deficiency (DOID:0111270)
Alliance: disease page
Synonyms: sulfocysteinuria
Alt IDs: OMIM:272300, ICD10CM:E72.19, MESH:C538141, ORDO:99731, UMLS_CUI:C0268624, UMLS_CUI:C2931746
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory