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.
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
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