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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: Hypersarcosinemia;   SARCOS;   SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY;   SARD Deficiency;   SARDH Deficiency;   SARDHD;   Sarcosin dehydrogenase complex, deficiency of;   Sarcosine Dehydrogenase Complex, Deficiency Of;   demethylation defect of N-methylglycine
 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 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 17150
    Nutritional and Metabolic Diseases 5527
      disease of metabolism 5527
        mitochondrial metabolism disease 392
          sarcosinemia 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            autosomal genetic disease 6276
              autosomal recessive disease 3444
                sarcosinemia 1
paths to the root