|  Help  |  About  |  Contact Us

DO Term : isolated sulfite oxidase deficiency [DOID:0111270] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:5062,
  • SNOMEDCT_US_2023_03_01:40873003,
  • MESH:C538141,
  • ICD10CM:E72.19,
  • OMIM:272300,
  • sulfocysteinuria,
  • 272300,
  • UMLS_CUI:C0268624,
  • UMLS_CUI:C2931746,
  • ORDO:99731,
  • SNOMEDCT_US_2023_03_01:237935000
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents