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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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
isolated sulfite oxidase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd52 ankyrin repeat domain 52 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:806,829...820,481
Ensembl chr 7:806,767...820,481
JBrowse link
G Cnpy2 canopy FGF signaling regulator 2 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:748,877...754,352
Ensembl chr 7:749,008...755,519
JBrowse link
G Coq10a coenzyme Q10A ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:792,089...798,392
Ensembl chr 7:792,089...800,161
JBrowse link
G Cs citrate synthase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
JBrowse link
G Esyt1 extended synaptotagmin 1 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:928,848...946,199
Ensembl chr 7:928,848...946,199
JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
JBrowse link
G Il23a interleukin 23 subunit alpha ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
JBrowse link
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr  X:107,822,116...107,822,555
Ensembl chr  X:107,822,178...107,822,525
JBrowse link
G Myl6 myosin light chain 6 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:910,764...914,062
Ensembl chr 7:910,774...933,791
JBrowse link
G Myl6b myosin light chain 6B ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr  X:40,572,012...40,572,991 JBrowse link
G Nabp2 nucleic acid binding protein 2 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:830,949...836,551
Ensembl chr 7:830,949...838,027
JBrowse link
G Pa2g4 proliferation-associated 2G4 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:984,795...992,264
Ensembl chr 7:983,971...992,331
JBrowse link
G Pan2 poly(A) specific ribonuclease subunit PAN2 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:729,146...747,744
Ensembl chr 7:729,562...747,744
JBrowse link
G Rnf41 ring finger protein 41 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:838,160...876,869
Ensembl chr 7:838,203...865,511
JBrowse link
G Rpl41 ribosomal protein L41 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:977,885...978,965 JBrowse link
G Slc39a5 solute carrier family 39 member 5 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:822,873...830,865
Ensembl chr 7:824,818...830,242
JBrowse link
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
JBrowse link
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
JBrowse link
G Suox sulfite oxidase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency OMIM
ClinVar
PMID:1212661 PMID:9428520 PMID:9536098 PMID:9600976 PMID:12001203 More... NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038
JBrowse link
G Zc3h10 zinc finger CCCH type containing 10 ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency ClinVar PMID:28492532 NCBI chr 7:973,415...977,742
Ensembl chr 7:972,855...979,349
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        inherited metabolic disorder 4673
          amino acid metabolic disorder 802
            isolated sulfite oxidase deficiency 21
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                isolated sulfite oxidase deficiency 21
paths to the root