Search Ontology:
Human Disease

isolated sulfite oxidase deficiency

Term ID
DOID:0111270
Synonyms
  • sulfocysteinuria
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)
References
  • 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
Ontology
Human Disease   ( DOID:0111270 )
Relationships
is a type of
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Genes Involved
Zebrafish Models