About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
01/24/2023
MGI 6.22
The Jackson Laboratory