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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 N Suox sulfite oxidase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria OMIM
ClinVar		 PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 More... NCBI chrNW_004624802:12,049,787...12,054,810
Ensembl chrNW_004624802:12,047,270...12,054,523 		JBrowse link
G G SUOX sulfite oxidase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria OMIM
ClinVar		 PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 More... NCBI chr11:51,935,809...51,943,090
Ensembl chr11:51,939,809...51,942,603 		JBrowse link
G P SUOX sulfite oxidase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria OMIM
ClinVar		 PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 More... NCBI chr 5:21,395,246...21,399,715
Ensembl chr 5:21,395,262...21,399,710 		JBrowse link
G S Suox sulfite oxidase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria OMIM
ClinVar		 PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 More... NCBI chrNW_004936646:411,543...415,709
Ensembl chrNW_004936646:411,084...415,732 		JBrowse link
G D SUOX sulfite oxidase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria OMIM
ClinVar		 PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 More... NCBI chr10:327,656...331,826
Ensembl chr10:327,671...331,825 		JBrowse link
G B SUOX sulfite oxidase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria OMIM
ClinVar		 PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 More... NCBI chr12:32,907,456...32,915,788
Ensembl chr12:33,157,277...33,165,661 		JBrowse link
G C Suox sulfite oxidase ISO ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria OMIM
ClinVar		 PMID:1212661 PMID:9050047 PMID:9428520 PMID:9536098 PMID:9600976 More... NCBI chrNW_004955458:3,584,390...3,589,764
Ensembl chrNW_004955458:3,585,482...3,590,559 		JBrowse link
G R 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
G M 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 chr10:128,505,756...128,509,787
Ensembl chr10:128,505,763...128,509,942 		JBrowse link
G H SUOX sulfite oxidase IAGP
EXP		 ClinVar Annotator: match by term: Sulfite oxidase deficiency
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 chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 175451
    Nutritional and Metabolic Diseases 74976
      disease of metabolism 74976
        inherited metabolic disorder 57585
          amino acid metabolic disorder 15210
            isolated sulfite oxidase deficiency 10
Path 2
Term Annotations click to browse term
  disease 175451
    Developmental Disease 147725
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 135789
        genetic disease 131947
          monogenic disease 108584
            autosomal genetic disease 99987
              autosomal recessive disease 68471
                isolated sulfite oxidase deficiency 10
paths to the root