Search Ontology:
Human Disease

sarcosinemia

Term ID
DOID:0112307
Synonyms
  • demethylation defect of N-methylglycine
  • SARCOS
  • sarcosine dehydrogenase complex deficiency
  • SARD deficiency
  • SARDH deficiency
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. (2)
References
  • GARD:158
  • ICD10CM:E72.59
  • MEDDRA:10059299
  • MESH:C537236
  • MIM:268900
  • ORDO:3129
  • SNOMEDCT_US_2023_03_01:64852002
  • UMLS_CUI:C0268563
Ontology
Human Disease   ( DOID:0112307 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models