OBO ID: DOID:0112307
Term Name: sarcosinemia Search Ontology:
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 SARDH on chromosome 9q34.2. (2)
References:
  • GARD:158
  • ICD10CM:E72.59
  • MEDDRA:10059299
  • MESH:C537236
  • OMIM:268900
  • ORDO:3129
  • SNOMEDCT_US_2022_03_01:64852002
  • UMLS_CUI:C0268563
Ontology: Human Disease   (DOID:0112307)
OTHER sarcosinemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SARDH [Sarcosinemia] 268900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None