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RGD uses the Human Disease Ontology (DO, 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
For additional species annotation, visit the Alliance of Genome Resources.

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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 OMIM:272300
ClinVar Annotator: match by term: Sulfite oxidase deficiency
ClinVar Annotator: match by term: Sulfite oxidase deficiency, isolated
ClinVar Annotator: match by term: Isolated sulfite oxidase deficiency
PMID:9428520, PMID:9600976, PMID:12001203, PMID:12112661, PMID:12368985, PMID:15952210, PMID:16140720, PMID:19339519, PMID:23994568, PMID:24938149, PMID:25741868, PMID:28492532, PMID:28629418, PMID:28933809, PMID:29590070 NCBI chr 7:3,098,228...3,102,179
Ensembl chr 7:3,098,245...3,102,142
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            isolated sulfite oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                isolated sulfite oxidase deficiency 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.