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ONTOLOGY REPORT - ANNOTATIONS


Term:isolated sulfite oxidase deficiency
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Accession:DOID:0111270 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Sulfite Oxidase Deficiency;   Sulfocysteinuria
 primary_id: MESH:C538141
 alt_id: DOID:9005055;   OMIM:272300;   RDO:0004077
 xref: GARD:5062;   ORDO:99731
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isolated sulfite oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Suox sulfite oxidase JBrowse link 7 3,098,228 3,102,179 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        inherited metabolic disorder 1864
          amino acid metabolic disorder 326
            isolated sulfite oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4659
            autosomal genetic disease 3619
              autosomal recessive disease 2061
                isolated sulfite oxidase deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.