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DO Term : sarcosinemia [DOID:0112307] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
ICD10CM:E72.59,
SARCOS,
OMIM:268900,
demethylation defect of N-methylglycine,
UMLS_CUI:C0268563,
MESH:C537236,
SNOMEDCT_US_2023_03_01:64852002,
SARDH deficiency,
268900,
MEDDRA:10059299,
GARD:158,
ORDO:3129,
SARD deficiency,
sarcosine dehydrogenase complex deficiency

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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