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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:9005413 term browser browse the term
Synonyms:exact_synonym: Hypersarcosinemia;   SARCOS;   SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY;   SARD Deficiency;   SARDH Deficiency;   SARDHD;   Sarcosin dehydrogenase complex, deficiency of;   Sarcosine Dehydrogenase Complex, Deficiency Of
 primary_id: MESH:C537236;   RDO:0003029
 alt_id: OMIM:268900
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 OMIM:268900 OMIM
ClinVar
PMID:22825317 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
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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
        mitochondrial metabolism disease 345
          Sarcosinemia 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
          inherited metabolic disorder 2237
            mitochondrial metabolism disease 345
              Sarcosinemia 1
paths to the root

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