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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: OMIM:272300
 xref: GARD:5062;   ORDO:99731


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isolated sulfite oxidase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suox sulfite oxidase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 More... NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    Nutritional and Metabolic Diseases 8223
      disease of metabolism 8223
        inherited metabolic disorder 6191
          amino acid metabolic disorder 1522
            isolated sulfite oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 21118
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18310
        genetic disease 18254
          monogenic disease 10256
            autosomal genetic disease 9403
              autosomal recessive disease 6471
                isolated sulfite oxidase deficiency 1
paths to the root