Search Ontology:
Human Disease
sarcosinemia
- Term ID
- DOID:0112307
- Synonyms
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- 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
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- 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 )
- is a type of
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Zebrafish Models