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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 the SARDH gene on chromosome 9q34.2. (DO)
Synonyms:exact_synonym: SARCOS;   SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY;   SARD deficiency;   SARDH deficiency;   SARDH-RELATED CONDITION;   SARDHD;   deficiency of sarcosin dehydrogenase complex;   deficiency of sarcosine dehydrogenase complex;   demethylation defect of N-methylglycine;   hypersarcosinemia
 alt_id: DOID:9005413
 xref: GARD:158;   MESH:C537236;   MIM:268900;   MONDO:0010008;   ORDO:3129


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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: SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY | ClinVar Annotator: match by term: SARDH DEFICIENCY | ClinVar Annotator: match by term: SARDH-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:22825317 PMID:25741868 PMID:28492532 NCBI chr 3:30,908,621...30,973,409
Ensembl chr 3:30,908,621...30,972,137 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          sarcosinemia 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                sarcosinemia 1
paths to the root