OBO ID: DOID:0111270
Term Name: isolated sulfite oxidase deficiency Search Ontology:
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
  • OMIM:272300
  • ORDO:99731
  • SNOMEDCT_US_2022_03_01:237935000
  • SNOMEDCT_US_2022_03_01:40873003
  • UMLS_CUI:C0268624
  • UMLS_CUI:C2931746
Ontology: Human Disease   (DOID:0111270)
OTHER isolated sulfite oxidase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SUOX Sulfite oxidase deficiency 272300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None