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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:sarcosinemia
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Accession:DOID:0112307 term browser browse the term
Definition:An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in SARDH on chromosome 9q34.2. (DO)
Synonyms:exact_synonym: SARCOS;   SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY;   SARD deficiency;   SARDH deficiency;   SARDHD;   deficiency of sarcosin dehydrogenase complex;   deficiency of sarcosine dehydrogenase complex;   demethylation defect of N-methylglycine;   hypersarcosinemia
 primary_id: MESH:C537236
 alt_id: DOID:9005413;   OMIM:268900
 xref: GARD:158;   ORDO:3129
For additional species annotation, visit the Alliance of Genome Resources.



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sarcosinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Sarcosin dehydrogenase complex, deficiency of OMIM
ClinVar
PMID:22825317 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        mitochondrial metabolism disease 442
          sarcosinemia 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          monogenic disease 8606
            autosomal genetic disease 7607
              autosomal recessive disease 4644
                sarcosinemia 1
paths to the root